Phenotype #0000000504

Individual ID 00006541
Associated disease ALS
Phenotype details a case of a 17-year-old British man with rapidly progressive bulbar and respiratory failure. On examination he had weak periocular muscles, neck flexion weakness, and a wasted, fasciculating and weak tongue. There were no sensory, cerebellar, or extrapyramidal features but he had frequent myoclonic jerks of the limbs. Routine bloods were normal and an MRI of the neuroaxis as well as CT chest, abdomen and pelvis were unremarkable.
Inheritance -
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu

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